title: [Clinical and molecular genetic analysis of hereditary optic neuropathies].
abstract: DNA samples of 50 patients with optic neuropathy (ON) associated with congenital cataract were studied to find 3 major mt-DNA mutations (m.11778G>A, m.3460G>A, m.14484T>C), mutations in "hot" regions of OPA 1 gene (exons 8, 14, 15, 16, 18, 27, 28) and in the entire coding sequence of OPA3 gene for molecular genetic confirmation of diagnosis of hereditary Leber and autosomal dominant ON. Primary mutations of mtDNA responsible for hereditary Leber ON were found in 16 patients (32%). Pathogenic mutations of OPAl gene (c.869G>A and c. 2850delT) were identified in 2 patients (4%), these mutations were not found in the literature. OPA3 gene mutations were not revealed.
authors.forename: S É
authors.initials: SÉ
authors.lastname: Avetisov
authors.forename: N L
authors.initials: NL
authors.lastname: Sheremet
authors.forename: O K
authors.initials: OK
authors.lastname: Vorob'eva
authors.forename: É G
authors.initials: ÉG
authors.lastname: Eliseeva
authors.forename: A L
authors.initials: AL
authors.lastname: Chukhrova
authors.forename: A N
authors.initials: AN
authors.lastname: Loginova
authors.forename: N A
authors.initials: NA
authors.lastname: Khanakova
authors.forename: A V
authors.initials: AV
authors.lastname: Poliakov
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D050259:Genes, Mitochondrial; D056726:Genetic Association Studies; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009887:Ophthalmoscopy / Q000379:methods; D029241:Optic Atrophy, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial